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Diseases
Genes (1755)
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PNP
Purine Nucleoside Phosphorylase Deficiency
SSX1
Synovial Sarcoma
SSX2
Synovial Sarcoma
MAGEL2
Prader–willi Syndrome
THAP1
Dystonia 6, Torsion
SNRPN
Prader–willi Syndrome
SS18
Synovial Sarcoma
GNAQ
Prader–willi Syndrome
Uveal Melanoma
FMR1
Primary Ovarian Insufficiency
Prader–willi Syndrome
Gonadotropin-Resistant Ovary Syndrome
GNA11
Uveal Melanoma
BAP1
Uveal Melanoma
NR5A1
Primary Ovarian Insufficiency
Gonadotropin-Resistant Ovary Syndrome
KANSL1
17q21.31 Microdeletion Syndrome
CYP2C19
Primary Ovarian Insufficiency
Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
Primary Ovarian Insufficiency
Gonadotropin-Resistant Ovary Syndrome
WT1
Primary Ovarian Insufficiency
Gonadotropin-Resistant Ovary Syndrome
NDN
Prader–willi Syndrome
NFE2L2
Primary Ovarian Insufficiency
Gonadotropin-Resistant Ovary Syndrome
BCL2
Synovial Sarcoma
Primary Ovarian Insufficiency
Uveal Melanoma
HLA-B
Ankylosing Spondylitis
Severe Acute Respiratory Syndrome